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Katelijne Bouman
Katelijne Bouman
clinical geneticist, University Medical Center Groningen, the Netherlands
在 umcg.nl 的电子邮件经过验证
标题
引用次数
引用次数
年份
The Tulip classification of perinatal mortality: introduction and multidisciplinary inter‐rater agreement
FJ Korteweg, SJ Gordijn, A Timmer, J Erwich, KA Bergman, K Bouman, ...
BJOG: An International Journal of Obstetrics & Gynaecology 113 (4), 393-401, 2006
2232006
Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup
FJ Korteweg, K Bouman, JJHM Erwich, A Timmer, NJGM Veeger, ...
Obstetrics & Gynecology 111 (4), 865-874, 2008
1492008
Allele sharing on chromosome 11q13 in sibs with asthma and atopy
JM Collee, LP Ten Kate, HG De Vries, JW Kliphuis, K Bouman, H Scheffer, ...
The Lancet 342 (8876), 936, 1993
1181993
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies
M Majava, KP Hoornaert, D Bartholdi, MC Bouma, K Bouman, M Carrera, ...
American Journal of Medical Genetics Part A 143 (3), 258-264, 2007
1062007
The introduction of arrays in prenatal diagnosis: a special challenge
A Vetro, K Bouman, R Hastings, DJ McMullan, JR Vermeesch, K Miller, ...
Human mutation 33 (6), 923-929, 2012
872012
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
L van Prooyen Schuurman, EA Sistermans, D Van Opstal, L Henneman, ...
The American Journal of Human Genetics 109 (6), 1140-1152, 2022
79*2022
Perinatal death investigations: What is current practice?
JW Nijkamp, NJ Sebire, K Bouman, FJ Korteweg, J Erwich, SJ Gordijn
Seminars in Fetal and Neonatal Medicine 22 (3), 167-175, 2017
772017
A reduced size of the ovarian follicle pool is associated with an increased risk of a trisomic pregnancy in IVF-treated women
ML Haadsma, TM Mooij, H Groen, CW Burger, CB Lambalk, ...
Human Reproduction 25 (2), 552-558, 2010
762010
Stillbirth and neonatal mortality in pregnancies complicated by major congenital anomalies: findings from a large European cohort
H Groen, K Bouman, A Pierini, J Rankin, A Rissmann, M Haeusler, ...
Prenatal diagnosis 37 (11), 1100-1111, 2017
672017
Further delineation of the KAT6B molecular and phenotypic spectrum
T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ...
European Journal of Human Genetics 23 (9), 1165-1170, 2015
632015
Fluticasone propionate in children with moderate asthma.
MO Hoekstra, MH Grol, K Bouman, T Stijnen, GH Köeter, HF Kauffman, ...
American journal of respiratory and critical care medicine 154 (4), 1039-1044, 1996
601996
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the MAKE study
EMA Boormans, E Birnie, HI Wildschut, HG Schuring-Blom, D Oepkes, ...
BMC Pregnancy and Childbirth 8, 1-5, 2008
572008
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
MW Friederich, S Timal, CA Powell, C Dallabona, A Kurolap, ...
Nature communications 9 (1), 4065, 2018
522018
Noninvasive prenatal test results indicative of maternal malignancies: a nationwide genetic and clinical follow-up study
CJ Heesterbeek, SM Aukema, RJH Galjaard, EMJ Boon, MI Srebniak, ...
Journal of Clinical Oncology 40 (22), 2426-2435, 2022
482022
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound
N Corsten‐Janssen, K Bouman, JCD Diphoorn, AJ Scheper, R Kinds, ...
Prenatal diagnosis 40 (10), 1300-1309, 2020
462020
Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy
HD Buiter, MAGHO Scholtenhuis, K Bouman, R van Baren, CM Bilardo, ...
Archives of Disease in Childhood-Fetal and Neonatal Edition 98 (3), F256-F259, 2013
432013
Hepatitis C infection among intravenous drug users attending therapy programs in Cyprus
VL Demetriou, DAMC van de Vijver, J Hezka, Cyprus IVDU Network, ...
Journal of medical virology 82 (2), 263-270, 2010
432010
Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families
L Henneman, L Kooij, K Bouman, LP Kate
American journal of medical genetics 110 (4), 324-331, 2002
432002
Identification of a nonsense mutation at the 5'end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.
R Vrtel, S Verhoef, K Bouman, MM Maheshwar, M Nellist, AJ Van Essen, ...
Journal of medical genetics 33 (1), 47-51, 1996
371996
Eosinophil and mast cell parameters in children with stable moderate asthma
MO Hoekstra, MH Grol, H Hovenga, K Bouman, T Stijnen, GH Koëter, ...
Pediatric allergy and immunology 9 (3), 143-149, 1998
331998
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